A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661101



Internal ID9580520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:199314421..199318770hg38UCSC Ensembl
Outerchr2:199314264..199318923hg38UCSC Ensembl
Innerchr2:200179144..200183493hg19UCSC Ensembl
Outerchr2:200178987..200183646hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384660
hg194660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6530143, essv6049956
SamplesNA18517, NA18868
Known GenesSATB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661101
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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